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Primary immunodeficiency

Gene: CD81

Amber List (moderate evidence)

CD81 (CD81 molecule)
EnsemblGeneIds (GRCh38): ENSG00000110651
EnsemblGeneIds (GRCh37): ENSG00000110651
OMIM: 186845, Gene2Phenotype
CD81 is in 3 panels

2 reviews

Sophie Hambleton (Newcastle University)

I don't know

Single patient described, but strong evidence for pathogenicity
Created: 24 Jun 2018, 9:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hypogammaglobulinaemia

Publications

Louise Daugherty (Genomics England Curator)

I don't know

OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): CD81 .PanelApp HGNC gene symbol check: CD81 . IUIS Disease: CD81 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: N/A. IUIS Associated features: Recurrent infections, may have glomerulonephritis. IUIS Major category: Predominantly Antibody Deficiencies. IUIS Subcategory: Severe Reduction in at Least 2 Serum Immunoglobulin Isotypes with Normal or Low Number of B Cells, CVID Phenotype
Created: 2 Jul 2018, 10:35 a.m.
Keep amber after external expert review until more info on gene and disease association
Created: 27 Jun 2018, 7:15 p.m.
Reviewed and decided to keep amber until more info on gene and disease association.
Created: 11 Jun 2018, 2:18 p.m.
Comment on publications: added publication from OMIM : a single report van Zelm et al. (2010) PMID:20237408 (2010) In a Moroccan girl, born of consanguineous parents, with common variable immunodeficiency-6, van Zelm et al. (2010) identified a homozygous G-to-A transition in intron 6 of the CD81 gene, resulting in use of a cryptic splice site, generation of a frameshift, and premature termination. The CD81-deficient case showed autoimmune and inflammatory complications. Initially, this CD81 mutation was assumed to completely abolish CD81 protein expression, and thought in the absence of expression, CD19 expression was halved as it was thought that it provides docking sites for various signal transduction pathway molecules PMID: 14530327, 20237408. However, it was recently demonstrated by Vences-Catalán et al. (2015) PMID:25739915 that in fact a truncated CD81 protein was produced, both the mutant CD81 and the normal CD19 protein were retained intracellularly, resulting in absent CD81 and CD19 surface expression. However, it was recently demonstrated that in fact a truncated CD81 protein was produced.47 Both the mutant CD81 and the normal CD19 protein were retained intracellularly, resulting in absent CD81 and CD19 surface expression.47
Created: 11 Jun 2018, 2:04 p.m.
Comment on phenotypes: added MIMid from OMIM. Common variable immunodeficiency (CVID) is the largest group of symptomatic primary immune deficiencies; it is characterized by hypogammaglobulinemia, poor response to vaccines and increased susceptibility to infections.
Created: 11 Jun 2018, 1:40 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: CD81, PanelApp HGNC gene symbol check: CD81, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Predominantly antibody disorders / Hypogammaglobulinemias / Common variable immunodeficiency disorders (CVID); Predominantly antibody disorders / Hypogammaglobulinemias / Isolated IgG subclass deficiency
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: CD81, GRID_Gene_Symbol: CD81, GRID_Transcript_ENS_Community submitted: ENST00000263645, GRID_Transcript_RefSeq: NM_004356.3, GRID_Transcript_ENS_used_on_Production: ENST00000263645
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Common variable immunodeficiency disorders (CVID)
  • Immunodeficiency, common variable 6, 613496
  • hypogammaglobulinaemia
  • CD81 deficiency
  • Isolated IgG subclass deficiency
  • Predominantly Antibody Deficiencies
  • Recurrent infections, may have glomerulonephritis
OMIM
186845
Clinvar variants
Variants in CD81
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to CD81. Added phenotypes Recurrent infections, may have glomerulonephritis; Predominantly Antibody Deficiencies for gene: CD81 Publications for gene CD81 were updated from 20237408; 14530327; 27250108 to 27250108; 14530327; 20237408; 32048120; 32086639

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CD81 were set to Immunodeficiency, common variable 6, 613496, Common variable immunodeficiency disorders (CVID), Isolated IgG subclass deficiency, CD81 deficiency, hypogammaglobulinaemia, Recurrent infections, may have glomerulonephritis, Predominantly Antibody Deficiencies

27 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: cd81 has been classified as Amber List (Moderate Evidence).

27 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CD81 were set to Immunodeficiency, common variable 6, 613496; Common variable immunodeficiency disorders (CVID); Isolated IgG subclass deficiency; CD81 deficiency; hypogammaglobulinaemia

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to CD81. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to CD81. Panel: Primary immunodeficiency disorders

11 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CD81 were set to 20237408; 14530327; 27250108

11 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CD81 were set to Immunodeficiency, common variable 6, 613496; Common variable immunodeficiency disorders (CVID); Isolated IgG subclass deficiency; CD81 deficiency

11 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: CD81 were set to 20237408

11 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: CD81 were set to Immunodeficiency, common variable 6, 613496; Common variable immunodeficiency disorders (CVID); Isolated IgG subclass deficiency

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to CD81. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to CD81. Panel: Primary immunodeficiency disorders Phenotypes for gene CD81 were set to Immunodeficiency, common variable, 6, Common variable immunodeficiency disorders (CVID), Isolated IgG subclass deficiency

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene CD81 were set to Immunodeficiency, common variable, 6

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

CD81 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

CD81 was created by Louise Daugherty